NM_033022.4(RPS24):c.390+14A>G AND Diamond-Blackfan anemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002148256.6
Allele description [Variation Report for NM_033022.4(RPS24):c.390+14A>G]
NM_033022.4(RPS24):c.390+14A>G
Condition(s)
- Name:
- Diamond-Blackfan anemia
- Synonyms:
- Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
-
TRICHION (160)
PMC
-
IL18BP interleukin 18 binding protein [Canis lupus familiaris]
IL18BP interleukin 18 binding protein [Canis lupus familiaris]Gene ID:476818Gene
-
476818[uid] AND (alive[prop]) (1)
Gene
-
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024